Document Detail


Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H).
MedLine Citation:
PMID:  22734899     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
By sequencing of the FGD4 coding sequence in a cohort of 101 patients affected by autosomal recessive demyelinating Charcot-Marie-Tooth disease (CMT), we have identified two novel missense mutations in FGD4 in two patients from consanguineous descent: p.Arg442His in an Algerian patient and p.Met566Ile in a Lebanese girl. The patients present early onset, slowly progressive CMT, with drastic reduction of nerve conduction velocities. These mutations are the second and third missense mutations characterized in FGD4. They are likely to lead to conformational changes in the PH1 and FYVE domains.
Authors:
Cécile Baudot; Clothilde Esteve; Christel Castro; Yannick Poitelon; Camille Mas; Tarik Hamadouche; Maryam El-Rajab; Nicolas Lévy; André Megarbané; Valérie Delague
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Publication Detail:
Type:  JOURNAL ARTICLE    
Journal Detail:
Title:  Journal of the peripheral nervous system : JPNS     Volume:  17     ISSN:  1529-8027     ISO Abbreviation:  -     Publication Date:  2012 Jun 
Date Detail:
Created Date:  2012-6-27     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9704532     Medline TA:  J Peripher Nerv Syst     Country:  -    
Other Details:
Languages:  ENG     Pagination:  141-146     Citation Subset:  -    
Copyright Information:
© 2012 Peripheral Nerve Society.
Affiliation:
Inserm, UMR 910, "Génétique Médicale et Génomique Fonctionnelle", Faculté de Médecine de la Timone Aix-Marseille Univ, UMR 910, "Génétique Médicale et Génomique Fonctionnelle", Faculté de Médecine de la Timone, Marseille, France Laboratoire de Neurosciences, Université d'Alger, Algiers Laboratoire de Biologie Moléculaire, Université M'hamed Bougara, Boumerdes, Algeria Pediatrics Department, Makassed General Hospital, Beirut, Lebanon Département de Génétique Médicale, Hôpital d'Enfants de la Timone, AP-HM, Marseille, France Unité de Génétique Médicale, Laboratoire International Associé Inserm, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.
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